Alberto Espay, MD
Parkinson's disease | Movement Disorders
Genetics of Movement Disorders
We plan to create a clinical database of selected patients with not-diagnosable movement disorders of presumed genetic etiology at the Gardner's Family Center, University of Cincinnati. These patients will be studied by means of a comprehensive phenotype-guided analysis that might include DNA sequencing and other molecular biology tests of samples collected from blood or saliva. The goals of the study are to evaluate clinical features and family history of patients with rare movement disorders (e. g. dystonia, ataxia, paroxysmal hyperkinetic disorders, rare forms of tremor, and hereditary parkinsonisms) undergoing Integrated Genomic Analysis of the DNA. As well as to determine the extent of phenotypic variability associated with each specific movement disorder-associated genetic mutation.